Canonical Allele Identifier: CA229981146
Gene:

Linked Data

dbSNP Id: rs555952391
gnomAD v2: 11-115943310-C-T
gnomAD v3: 11-116072592-C-T
gnomAD v4: 11-116072592-C-T
MyVariant Identifiers: chr11:g.115943310C>T (hg19) chr11:g.116072592C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072592C>T , CM000673.2:g.116072592C>T GRCh38
NC_000011.9:g.115943310C>T , CM000673.1:g.115943310C>T GRCh37
NC_000011.8:g.115448520C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+422G>A
XR_948056.1:n.311-5387G>A
XR_948057.1:n.97+517G>A
XR_001748401.1:n.192+422G>A
XR_948055.2:n.192+422G>A
XR_948056.2:n.314-5387G>A
XR_948057.2:n.97+517G>A
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